The female epilepsy protein PCDH19 is a new GABAAR-binding partner that regulates GABAergic transmission as well as migration and morphological maturation of hippocampal neurons-Reference-Cited by-同舟云学术

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The female epilepsy protein PCDH19 is a new GABAAR-binding partner that regulates GABAergic transmission as well as migration and morphological maturation of hippocampal neurons

Published:2018-01-17 Issue:6 Volume:27 Page:1027-1038
ISSN:0964-6906
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

Bassani Silvia¹,Cwetsch Andrzej W²,Gerosa Laura¹,Serratto Giulia M¹,Folci Alessandra¹,Hall Ignacio F¹,Mazzanti Michele³,Cancedda Laura²⁴,Passafaro Maria¹

Affiliation:

1. CNR Institute of Neuroscience, Milan 20129, Italy

2. Department of Neuroscience and Brain Technologies, Istituto Italiano di Tecnologia, Genoa 16163, Italy

3. Department of Bioscience, University of Milan, Milan 20133, Italy

4. Telethon Dulbecco Institute, Milan, Italy

Funder

Fondazione Cariplo

Publisher

Oxford University Press (OUP)

Subject

Genetics(clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/27/6/1027/24231811/ddy019.pdf

Reference44 articles.

1. X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment;Dibbens;Nat. Genet,2008

2. Cognitive and behavioral profile in females with epilepsy with PDCH19 mutation: two novel mutations and review of the literature;Camacho;Epilepsy Behav,2012

3. Epilepsy and mental retardation restricted to females: X-linked epileptic infantile encephalopathy of unusual inheritance;Duszyc;J. Appl. Genet,2015

4. Identification and characterization of three members of a novel subclass of protocadherins;Wolverton;Genomics,2001

5. Structural determinants of adhesion by Protocadherin-19 and implications for its role in epilepsy;Cooper;Elife,2016

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1. PCDH19-clustering epilepsy, pathophysiology and clinical significance;Epilepsy & Behavior;2024-05

2. Abnormal cell sorting and altered early neurogenesis in a human cortical organoid model of Protocadherin-19 clustering epilepsy;Frontiers in Cellular Neuroscience;2024-04-04

3. Mapping combinatorial expression of non-clustered protocadherins in the developing brain identifies novel PCDH19-mediated cell adhesion properties;Open Biology;2024-04

4. Proteomic analysis of the developing mammalian brain links PCDH19 to the Wnt/β-catenin signalling pathway;Molecular Psychiatry;2024-03-07

5. Overcoming genetic and cellular complexity to study the pathophysiology of X-linked intellectual disabilities;Journal of Neurodevelopmental Disorders;2024-02-29

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